Canonical Allele Identifier: CA235610

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189582
• ClinVar RCV Id: RCV000170033
• dbSNP Id: rs786204980
• MyVariant Identifiers: chrX:g.18646525dupA (hg19) ; chrX:g.18628405dupA (hg38)
• PubMed: PMID:23064044

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628405dup , CM000685.2:g.18628405dup	GRCh38
NC_000023.10:g.18646525dup , CM000685.1:g.18646525dup	GRCh37
NC_000023.9:g.18556446dup	NCBI36
NG_008475.1:g.207801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2531dup MANE Select	ENSP00000485244.1:p.His844GlnfsTer?
ENST00000674046.1:c.2654dup	ENSP00000501174.1:p.His885GlnfsTer?
ENST00000379989.6:c.2531dup	ENSP00000369325.3:p.His844GlnfsTer?
ENST00000379996.7:c.2531dup	ENSP00000369332.3:p.His844GlnfsTer?
ENST00000623535.1:c.2531dup	ENSP00000485244.1:p.His844GlnfsTer?
NM_001037343.1:c.2531dup	NP_001032420.1:p.His844GlnfsTer?
NM_003159.2:c.2531dup	NP_003150.1:p.His844GlnfsTer?
XM_011545569.1:c.2603dup	XP_011543871.1:p.His868GlnfsTer?
XM_011545570.1:c.2522dup	XP_011543872.1:p.His841GlnfsTer?
XR_950484.1:n.2906dup
NM_001323289.1:c.2531dup	NP_001310218.1:p.His844GlnfsTer?
NM_001323289.2:c.2531dup MANE Select	NP_001310218.1:p.His844GlnfsTer?
NM_001037343.2:c.2531dup	NP_001032420.1:p.His844GlnfsTer?
NM_003159.3:c.2531dup	NP_003150.1:p.His844GlnfsTer?